PMID: 24274930

Thomas M, Lemonnier L, Gulmans V, Naehrlich L, Vermeulen F, Cuppens H, Castellani C, Norek A, De Boeck K
Is there evidence for correct diagnosis in cystic fibrosis registries?
J Cyst Fibros. 2014 May;13(3):275-80. doi: 10.1016/j.jcf.2013.10.010. Epub 2013 Nov 22., [PubMed]
Sentences
No. Mutations Sentence Comment
112 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 24274930:112:233
status: NEW
view ABCC7 p.Arg117His details
 Allowing a more liberal interpretation of which mutation can be considered disease causing might allow inclusion of more patients, possibly also patients with mild phenotype or even doubtful diagnosis, as described in France for the R117H mutation [15]. Login to comment